Canonical Allele Identifier: CA386294527
Gene: PAH HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.102852815G>T
GRCh37 chr12:g.103246593G>T
Revel Score:
ENST00000553106 (MANE Select) 0.956
ENST00000307000 0.956
gnomAD v3:
12:102852815 G / T
gnomAD v4:
chr12-102852815-G-T
Joint Max Group AF 0.00001064 (AFR)
Genomes Max Group AF 0.000008 (AFR)
ClinVar RCV:
RCV001814820
ClinVar Variation:
1334639
dbSNP:
5030851
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852815G>T , CM000674.2:g.102852815G>T GRCh38
NC_000012.11:g.103246593G>T , CM000674.1:g.103246593G>T GRCh37
NC_000012.10:g.101770723G>T NCBI36
NG_008690.1:g.69788C>A
NG_008690.2:g.110596C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.842C>A MANE Select ENSP00000448059.1:p.Pro281His
ENST00000307000.7:c.827C>A ENSP00000303500.2:p.Pro276His
ENST00000549247.6:n.601C>A
ENST00000553106.5:c.842C>A ENSP00000448059.1:p.Pro281His
ENST00000635477.1:c.3C>A
NM_000277.1:c.842C>A NP_000268.1:p.Pro281His
XM_011538422.1:c.842C>A XP_011536724.1:p.Pro281His
NM_000277.2:c.842C>A NP_000268.1:p.Pro281His
NM_001354304.1:c.842C>A NP_001341233.1:p.Pro281His
NM_000277.3:c.842C>A MANE Select NP_000268.1:p.Pro281His
NM_001354304.2:c.842C>A NP_001341233.1:p.Pro281His
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